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Journal Article
Nature, ISSN 0028-0836, 09/2012, Volume 489, Issue 7415, pp. 313 - 317
Cornelia de Lange syndrome (CdLS) is a dominantly inherited congenital malformation disorder, caused by mutations in the cohesin-loading protein NIPBL1,2 for... 
SISTER-CHROMATID COHESION | NIPPED-B | COMPLEX | NIPBL | HUMAN GENOME | RNA-SEQ | MULTIDISCIPLINARY SCIENCES | X-CHROMOSOME-INACTIVATION | S-PHASE | PROTEINS | BINDING | Chromatin - metabolism | Chondroitin Sulfate Proteoglycans - chemistry | Humans | Crystallography, X-Ray | Male | Phosphoproteins - metabolism | Cell Cycle Proteins - chemistry | Chromatin Immunoprecipitation | Repressor Proteins - deficiency | De Lange Syndrome - metabolism | Fibroblasts | Female | Transcription, Genetic | Acetylation | Binding Sites | Repressor Proteins - metabolism | De Lange Syndrome - genetics | Repressor Proteins - chemistry | Chromosomal Proteins, Non-Histone - metabolism | Histone Deacetylases - genetics | Cell Cycle Proteins - metabolism | Chondroitin Sulfate Proteoglycans - metabolism | Histone Deacetylases - chemistry | Histone Deacetylases - deficiency | Mutant Proteins - genetics | Prophase | Models, Molecular | Repressor Proteins - genetics | Histone Deacetylases - metabolism | Mutant Proteins - metabolism | Nuclear Proteins - metabolism | Mutation - genetics | Proteins - genetics | Mutant Proteins - chemistry | Protein Conformation | HeLa Cells | Adaptor Proteins, Signal Transducing - metabolism | Anaphase | Chromatin - genetics | Chromosomal Proteins, Non-Histone - chemistry | Genetics | De Lange syndrome | Genetic aspects | Research | Mutation (Biology) | Proteins | Cell culture | Genes | Cell cycle | Mutation | Females | Chromosomes | Crystal structure | Chromatin | Repressor Proteins | Life Sciences | Phosphoproteins | Chromosomal Proteins, Non-Histone | Histone Deacetylases | De Lange Syndrome | Chondroitin Sulfate Proteoglycans | Nuclear Proteins | Mutant Proteins | Adaptor Proteins, Signal Transducing | Development Biology | Cell Cycle Proteins
Journal Article
Journal Article
Molecular Syndromology, ISSN 1661-8769, 08/2014, Volume 5, Issue 5, pp. 201 - 211
Fibrodysplasia ossificans progressiva (FOP, MIM 135100) is a rare autosomal dominant genetic disorder and the most disabling condition of heterotopic... 
Review Article | ACVR1 | Heterotopic ossifications | Progressive immobility | FOP | Great toe malformations | Review
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 09/2018, Volume 63, Issue 9, pp. 997 - 1001
Approximately 1-3% of children have intellectual disability or global developmental delay. Heterozygous mutations have emerged as a major cause of different... 
INTELLECTUAL DISABILITY | IDENTITY | VARIANTS | GENE | KAT6A | GENETICS & HEREDITY | MOZ | DISORDERS | HOX EXPRESSION | MUTATIONS | FEATURES | Microcephaly - genetics | Genes, Dominant | Humans | Histone Acetyltransferases - genetics | Female | Developmental Disabilities - genetics | Mutation, Missense | Child | Chromosome Disorders - genetics
Journal Article
Journal Article
Nature genetics, ISSN 1061-4036, 2012, Volume 44, Issue 4, pp. 445 - U261
Journal Article
Journal Article